Genetic Disease
It is very clear, that today's focus on genetic technology and its claim has been having some vital insinuations for healthcare at the present time and also in the future. Nurses need to recognize the position of assimilating new knowledge of genetics into their performances and be capable of helping patients to be able to manage with their genetic foundation of various diseases. Nurses likewise will need to know how to do things such as examine their own values, attitudes, and beliefs regarding hereditarily acquired diseases so as to deliver satisfactory and ethical nursing care to people from all over.
Interdisciplinary Team
The suitable members for an interdisciplinary team to get information for the first visit are a people such as the registered nurse because they would be the one that would have some kind of genetic knowledge, a genetic counselor, a high risk obstetrician likewise recognized as a Perinatologist primary…...
Genetic Disease Diagnosis, Screening, Treatment, And Advocacy
This case study involves a couple who are expecting a child. Testing has been conducted identifying the unborn child having the condition of Tay-Sachs disease. The nurse in this scenario will identify interdisciplinary team members and create a teaching plan to educate the couple about this disease. This work in writing will discuss three ethical implications regarding the availability of personal genetic information and will reflect on thoughts and feelings about the couple's choice and discuss how one would advocate for the couple's decision. Finally, this study will discuss how ethical and legal considerations affect the couple's decision about continuing the pregnancy.
Interdisciplinary Team Members
Interdisciplinary team members for effective treatment of the child in this case study will include naturally, the obstetrician, a maternal-fetal medicine specialist, a geneticist, and pediatric subspecialists including cardiologists and physical therapists. The maternal-fetal medicine specialist can provide information about the…...
mlaReferences
Lea, DH (200) Genetic And Genomic Healthcare: Ethical Issues of Importance to Nurses. The Online Journal of Issues in Nursing. Vol.13 No. 1 Jan 2008. Retrieved from http://www.nursingworld.org/MainMenuCategories/ANAMarketplace/ANAPeriodicals/OJIN/TableofContents/vol132008/No1Jan08/GeneticandGenomicHealthcare.html
NTSAD Peer Support Group (2013) National Tay-Sachs & Allied Disease Association. Retrieved from: http://www.ntsad-ny.org/services-peer-group.html
Treating Tay-Sachs Disease (2013) NHS. Retrieved from: http://www.nhs.uk/Conditions/Tay-Sachs-disease/Pages/Treatment.aspx
What is Tay-Sachs Disease (2013) National Institute of Neurological Disorders and Stroke. Retrieved from: http://www.ninds.nih.gov/disorders/taysachs/taysachs.htm
Genetic Disease Diagnosis
The Trosacks
Initial visit: three to five appropriate members for an interdisciplinary team
When the Trosacks come for their initial consultation, they must first seek to gain insight into the nature of Tay-Sachs disease, particularly because they are unfamiliar with the illness and do not know any family members who have coped with the disease. This revelation is new and entirely unexpected. A certified genetic counselor with a specific understanding of Tay-Sachs should be present to explain the disease's origin and transmission in layperson's terms.
Coping with the difficulties of a traumatic genetic diagnosis also requires a grief counselor with training in how to help parents cope psychologically with their new diagnosis. And finally, a doctor must be able to explain the full range of options for the Trosacks, spanning from termination to deciding to allow the pregnancy to progress.
Identify from whom you can obtain information for the Trosacks' initial visit
Before…...
mlaReferences
Genetic discrimination fact sheet. (2011). Genome.gov. Retrieved:
http://www.genome.gov/10002328
NINDS Tay-Sachs Disease Information Page. (2011) NINDS. Retrieved:
Down's syndrome is basically a genetic disease that is caused by the presence of an extra chromosome. The chromosome that is defaulted in this syndrome is chromosome number twenty-one. It has been seen that Down's syndrome is one of the most common chromosome disease that is seen in humans. The major striking features of this disorder are physical and mental growth delay. It should be noted that the children appear small for their age and their actions and abilities are also slower than the children their age. It has been noted that Down's syndrome goes on to affect about one in every 800 hundred babies that are born in the United States.
Even though the signs and symptoms are quite variable in all of the children, there are some particular signs that are characteristic of Down's syndrome. Children with Down's syndrome usually have an abnormally small chin, a flat nasal bridge,…...
mlaReferences
Down Syndrome [Internet]. 2009 April 8th.[2013 July 18th, cited 2013 November 13th] . Available from: http://www.medicalnewstoday.com/articles/145554.php
Egan, J, Smith, K, Timms, D, Bolnick, J, Campbell W, Benn P. 2011. Demographic differences in Down syndrome livebirths in the U.S. from 1989 to 2006. Prenatal diagnosis; 31 (4): 389 -- 394.
Jiang J, Jing Y, Cost G, Chiang J, Kolpa H, Cotton A, Carone D, Carone B, Shivak D, Guschin D, 2013. Translating dosage compensation to trisomy 21. Nature.
US Department of Health and Human Services . 2013 March 4. Down Syndrome: Overview [Internet]. [2013 March 4, cited 2013 November 13] . Available from: http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx
Lung Cancer
Cancer is a complex genetic disease in which a series of processes give rise to the final processing of the normal cell to cell tumor. In case of a tumor cell, the fundamental characteristic of the cell is lost which performs the usual function of normal cells of a particular organ. Tumor cells also deteriorate rapidly and without limit, having lost one of the features that normal cells have, which is the programmed cell death. This progressive increase in the whole tumor cell proliferation is called cancer. As the tumor progresses, the daughter cells are in differentiable making more genetic changes (Bach, 2011). This increase their malignant potential, and others are beginning to emerge processes such as local or loco-regional extension and infiltration of lymphatic micro vessels and blood vessels, which ultimately produces the transport through the lymphatic stream, resulting in lymph node invasion, and the bloodstream and subsequent…...
mlaReferences
Bach, PB.(2011). Inconsistencies in findings from the early lung cancer action project studies of lung cancer screening. J Natl Cancer Inst; 103(13):1002 -- 1006.
Cleeland, CS (2007). Symptom burden: Multiple symptoms and their impact as patient-reported outcomes. J Natl Cancer Inst Monographs 37:16-21.
Holdstock, Ruth (2010). Lung cancer. Practice Nurse, 09536612, 2010, Vol. 40, Issue 8.
Jemal, A, et al. (2011). Global cancer statistics. CA Cancer Journal Clinic; 1(61): 69 -- 90.
Societal Interventions in Genetic Diseases:
Genetic diseases are among the most common diseases that occur or affect a huge portion of the world's population. The main cause of the diseases is attributed to the mutations in genes that are fundamental for the usual functioning of the organism's cells. Following the mutation of a gene, the encoded protein fails to function properly and certain cellular processes are likely to go skewed resulting in genetic diseases. Due to their significant impact on the world's population, genetic diseases have profound effects at the individual, family, and societal levels. However, the effect of the diseases is largely experienced at the individual level because humans have genes similar to other living organisms.
As a result of the effect of genetic diseases on the three basic facets of a community or society, various interventions have been adopted to deal with the increasing problem. Notably, most of these interventions…...
mlaReferences:
Samem, F.M.A. (n.d). Human Genetic Screening. Retrieved from North Dakota State University
website: http://www.ndsu.edu/pubweb/~mcclean/plsc431/students/firas.htm
Scacheri, C. (n.d.). Genetics and Society. Retrieved October 7, 2012, from http://www.nature.com/scitable/topic/genetics-and-society-11
Wood, J.L.N., Lakhani, K.H. & Henley, W.E. (2004). An Epidemiological Approach to Prevention and Control of Three Common Heritable Diseases in Canine Pedigree Breeds in the United Kingdom. The Veterinary Journal, 168, 14-27. Retrieved from http://www.ansci.wsu.edu/Courses/as464/notes/webdocs/Background%20Information/geneticdiseaseepidemiologyvetjournalagu2004.pdf
infertile couples turn to in vitro fertilization to try to have a baby. In this technique, sperm and egg are collected and used to create eight-cell embryos for implantation into a woman's uterus. At the eight cell stage, one of the fetal cells can be removed without causing harm to the developing fetus. Once removed, the cell can be genetically tested. Some couples may know that a particular genetic disease runs in their family. They might wish to avoid implanting embryos with the disease-causing genes. What if couple wanted to use genetic testing to select embryos for traits unrelated to disease, such as freckles or may be to select a gender. Do you think that couples undergoing in vitro fertilization should be allowed to perform whatever genetic tests they wish? Or do you think that there should be limits on what tests can be performed?
I strongly believe that there…...
mlaReferences
Brezina, P.R., Ross, R., Kaufmann, R., Anchan, R., Zhao, Y., & Kearns, W.G. (2013, September). Genetic normalization of differentiating aneuploid cleavage stage embryos. Fertility and Sterility, 100(3), S69. Retreived from http://www.fertstert.org/article/S0015-0282%2813%2902675-7/abstract
Feldman, H.S., Jones, K.L., Lindsay, S., Slymen, D., Klonoff-Cohen, H., Kao. K., Rao, S., & Chambers, C.D. (2012). Prenatal alcohol exposure patterns and alcohol-related birth defects and growth deficiencies: A prospective study. Alcoholism: Clinical and Experimental Research, 36(4), 670-6.
Korf, B.R. (2011). Principles of genetics. In: Goldman L, Ausiello D. (Eds.) Cecil Medicine (24th ed.). Philadelphia, PA: Saunders Elsevier:chap 39.
This past two weeks have been really helpful for deepening my understanding of how nursing practice can have a direct impact on population health as well as improving individual health outcomes. Week one was particularly challenging as we addressed the principles of genetics, from the basic structures of DNA and RNA, to their functions in the body and throughout the life span. I had learned about replication, transcription, and translation earlier in biology classes, but this course material was presented at a higher level of learning. Also, this week’s material showed how I would apply this knowledge to practice, such as by analyzing cellular and chromosomal events with the goal of helping patients make informed decisions. We continued our learning about inheritance and genetics in the second week. This week proved particularly illuminating because of the interface between genetic testing and bioethics. Screening and diagnosis are poignant ethical issues when…...
mlaReferences
Lea, D.H., Williams, J. & Donohue, M.P. (2005). Ethical issues in genetic testing. Journal of Midwifery and Women’s Health 50(3): 234-240.National Human Genome Research Institute (n..d). Issues in genetics. https://www.genome.gov/10000006/issues-in-genetics/
Genetic screening is one of the most controversial topics in the scientific arena today. The advent of the Human Genome Project, which maps the complete human genetic code, has brought this issue to the forefront. This paper will discuss the basic science that underlies genetic screening, applications of genetic screening, and investigate some of the common misconceptions and ethical questions about its use.
Genetic screening itself is simply "the systematic search within a population for persons possessing particular genotypes, which are either associated with disease, predisposing to disease, or leading to disease in descendants" (Miller). In simpler terms, genetic screening involves testing and determining whether "an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring" (McCarrick). Essentially, genetic screening is conducted for several basic reasons, including the care of the ill and the prevention of disease, providing reproductive information, determining the incidence of…...
mlaWorks Cited
Alberts, Bruce. 2002. Molecular biology of the cell, 4th ed. New York: Garland Science.
Genetic Science Learning Center. 2004. Genetic Disorder Corner. University of Utah. 07 May 2004. http://gslc.genetics.utah.edu/units/disorders/
McCarrick, Pat Milmoe. 1993.Genetic Testing and Genetic Screening. Scope Note 22. National Reference Center for Bioethics Literature, Georgetown University, 1993. Kennedy Institute of Ethics Journal (KIEJ), Reprinted September 1993, 17 p. (Last updated February 2002). 07 May 2004. http://www.georgetown.edu/research/nrcbl/scopenotes/sn22.html
Miller, Kelly. 1999. Genetic Screening. Phil McClean, Professor, Ph.D. Colorado State University, PLSC 431/631 - Intermediate Genetics. 07 May 2004. The mundane by excellent cinematography and an effective cast.http://www.ndsu.nodak.edu/instruct/mcclean/plsc431/students99/miller.htm.
"Accurate descriptions of sex chromosome differences are critical, the decisions potentially regrettable, and the long-term outcomes devastating if a termination is based on the misinformation," that the patient later discovers to be misinformation for instance, "that any of these conditions is comparable to Down's Syndrome" (Biesecker r 2001:2) Conversely, it is also important not to minimize the odds of a potentially fatal genetic condition like Tay Sachs disease.
Providers are obliged to obtain useful up-to-date information and to ensure parents have adequate opportunity to consider their decision with the help of an experienced healthcare provider, preferably in medical genetics, and if necessary, a counselor who is attuned to the cultural assumptions and needs of the couple's population group, and religious beliefs. Certain populations might have a different view and understanding of the real difficulty of raising a child suffering from a heritable disorder, or even the concept of heritability of…...
mlaWorks Cited
Baker, Schuette & Uhlmann. (Eds.) (1998). A guide to genetic counseling.
Beery, Theresa a & Kerry a. Schooner. (Nov 2004). "Family History: The First Genetic
Screen." Nurse Practioner. Retrieved 23 Jun 2007 at http://findarticles.com/p/articles/mi_qa3958/is_200411/ai_n9469874/pg_5
Biesecker, Barbara. (24 Feb 2001). "Prenatal diagnoses of sex chromosome conditions:
By treating genetic disorders, natural selection is interrupted -- these individuals do not die as they naturally would have, and so their genetic disadvantage no longer selects against them. iT could be argued, however, that humans have stopped evolving as biological creatures anyway; technology has provided the "cure" to many issues of natural selection, both from the species end of things and from the supply side (i.e. In making more resources more available to more people). Therefore, it is not really detrimental to the species as a whole to save the individuals with lethal alleles. Since we are no longer really evolving, and the prevalence of most lethal alleles is incredibly low anyway, the species as a whole is not made less healthy by the presence of these individuals or their alleles, despite the increased chance they have at procreating.
This means that traditional medical ethics, which demand that an…...
Evolution & Genetic Drift
Evolution and Genetic Drift
The variety of human attributes evident in society comes as a result of the variety of alleles that direct the expression of human genotypes. This expression results in very different phenotypic traits that form the basis of human individuality. Based upon these traits, a person may be more or less likely to adapt well to their environment. hen viewed over a long enough time period, the frequency of allele distribution results in more or less advantageous phenotypes. Those phenotypes that are less adaptive to the surroundings make it harder for that individual to survive. This is the basis of natural selection, where desirable traits are selected for based upon the advantages that the phenotype confers. This is also the reason for changing allele frequencies, as those gene variants that are less helpful to the organism become (over time) less common in the population. "These…...
mlaWorks Cited
Lewis, Ricki. Human Genetics: Concepts and Applications. New York: McGraw-Hill,
Moran, Laurence. "Random Genetic Drift." Downloaded July 23, 2004 from The Talk.
Origins Archive, Web site: http://www.talkorigins.org/faqs/genetic-drift.html,1997.
Solomon, Eldra, Berg, Linda and Diana Martin. Biology. New York: Harcourt Brace
Prenatal genetic testing can prove useful to many expectant mothers under certain conditions. For example, those with inherited illnesses, those with children born with severe defects, those who are high risk of delivering a still born, and women over the age of 34 all present as likely candidates for prenatal genetic testing. It can help them identify what may be wrong with the fetus and what steps to take if something is found. However, pregnant women not at risk for such problems stand not to benefit from prenatal genetic testing as the procedure can be unsafe for the fetus and mother and is not entirely accurate.
Ethos means persuading a person through the persuader's credibility or character. Prenatal genetic testing is performed by a qualified doctor who has experience, and a history of formal education. By having a qualified doctor perform the procedure, it may result in a positive outcome in…...
Huntington's disease (HD) was the first autonomic dominant disorder for which genetic prediction became possible" (Harper, et al., 2000, Journal of Medical Genetics, p. 567). HD is a disease that occurs due to an inherited disorder leading to the death of brain cells. A diagnosis of HD is accomplished through genetic testing which can be implemented at any age regardless of whether the symptoms manifest or not. Although, the specific symptoms vary between people, nevertheless, symptoms can start with people between 35 and 45 years of age and can also start in some individuals at even anearlier age. The disease may affect successive generations if health interventions are not implemented (Mandel, 2016).
Additionally, "the cause of HD is due to a dominant mutation of autosomal form of the gene called Huntington. This shows that a child born by an affected person has a 50% chance of developing or inheriting the disease"…...
mlaReferences
Causes and risk factors. (2016). Health Communities. Retrieved from healthcommunities.com/huntingtons-disease/cause.shtml.http://www.
Denbo, S. M. (2013, January 1). Balancing the rights of children, parents and the state: The legal, ethical and psychological implications of genetic testing in children. Southern Journal of Business and Ethics, 5, 188-190.
Domaradzki, J. (2015, January 1). Lay constructions of genetic risk. A case-study of the Polish Society of Huntington's Disease. Polish Sociological Review, 189, 107-111.
Draper, B. (2004). Dealing with dementia: A Guide to Alzheimer's Disease and other dementias. Crows Nest, NSW: Allen & Unwin.
Designing Babies: Genetic Engineering
The rapid development of science and technology has led to an advanced knowledge in the human genome with an increasing ability to change and modify genes to assist people designing babies that suit their wishes in the future. The genetic screening techniques are already being used in some countries where embryos are selected by sex and genes resistance to diseases. The argument in support of genetic engineering is that in the future, scientists will have the ability to replace the faulty genes with healthy DNA genes thereby eradicating the genetic diseases. Through genetic engineering it will be possible to design babies who will be highly intelligent, becoming great leaders and scientists in the future. Additionally, it will be possible to correct genetic diseases passed from generation to generation assisting families to install genes that offer lifelong protection against diseases. Despite the aforementioned benefits suggested by the scientists,…...
mlaWorks Cited
Mill J. S. On Liberty[1859], In Utilitarianism, on liberty, considerations on representative government. London: Everyman.
Parker, M. "The best possible child." Journal of Medical Ethics 33.5 (2007): 279-83. Web.
Regalado, Antonio. "Engineering the Perfect Baby." MIT Technology Review (2015).
Lo, Bernard and Parham, Lindsay. Ethical Issues in Stem Cell Research. Endocr Rev 30.3 (2007): 204 -- 213.
Anytime that you are writing an argumentative essay, the first thing that you want to do is basic research about the topic. This will help you decide which position you want to take. You may automatically assume that you should argue the position that you genuinely feel. However, it can be more effective to choose a position that you do not actually hold. Keep that in mind while doing your research about designer babies. While the term designer baby gives a high-end label to the process, and it is possible for people....
I. Introduction
A. Background information on gene editing
B. Definition and significance of ethics in medicine
C. Thesis statement: The ethics of gene editing in medicine are crucial for considering its potential benefits, societal implications, and potential risks.
II. Importance of gene editing in medicine
A. Explanation of gene editing techniques (CRISPR, TALENs, etc.)
B. Discussion on the potential to cure genetic diseases and prevent inherited disorders
C. Exploration of the role of gene editing in advancing personalized medicine
III. Benefits of gene editing in medicine
A. Improved treatment options for genetic disorders
B. Enhanced understanding of genetic....
I. Introduction
A. Definition of gene editing and its potential applications in medicine
B. Ethical considerations and potential risks
II. Techniques for Gene Editing
A. CRISPR-Cas9 system
B. Other gene editing technologies (e.g., TALENs, ZFNs)
C. Comparison of different techniques
III. Applications of Gene Editing in Medicine
A. Treatment of genetic diseases (e.g., sickle cell anemia, cystic fibrosis)
B. Cancer therapy (e.g., CAR T-cell therapy)
C. Regenerative medicine (e.g., tissue engineering, organ transplantation)
IV. Ethical and Societal Implications of Gene Editing
A. Off-target effects and unintended consequences
B. Long-term health risks and the need for monitoring
C. Concerns about genetic enhancement and the....
1. Cleveland Clinic is pioneering the use of CAR-T cell therapy, a groundbreaking immunotherapy treatment that uses a patient's own genetically engineered immune cells to target and kill cancer cells. This personalized treatment has shown promising results in patients with certain types of leukemia and lymphoma.
2. Cleveland Clinic is also at the forefront of developing and using artificial intelligence and machine learning algorithms to improve diagnostic accuracy and treatment decision-making. These tools help clinicians to make more accurate and timely decisions, ultimately leading to better patient outcomes.
3. Cleveland Clinic is actively working on utilizing precision medicine approaches to personalize treatments....
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